المؤلفون: Endrakanti M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Sharma J; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Ethayathulla AS; Department of Biophysics, All India Institute of Medical Sciences, New Delhi, India., Kaur P; Department of Biophysics, All India Institute of Medical Sciences, New Delhi, India., Khan SA; Department of Orthopedics, All India Institute of Medical Sciences, New Delhi, India., Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63592. Date of Electronic Publication: 2024 Apr 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Arthrogryposis*/genetics , Arthrogryposis*/pathology , Phenotype* , Founder Effect*, Humans ; Male ; Female ; India ; Child ; Child, Preschool ; Pedigree ; Adolescent ; Mutation/genetics ; Infant ; Genetic Association Studies ; Cohort Studies ; Genotype ; Adult ; Metalloendopeptidases

المؤلفون: Schaibley C; Department of Orthopaedics, Washington University School of Medicine, St. Louis, MO., Torres-Izquierdo B, Hosseinzadeh P

المصدر: Journal of pediatric orthopedics [J Pediatr Orthop] 2024 Sep 01; Vol. 44 (8), pp. 508-512. Date of Electronic Publication: 2024 Apr 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8109053 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-2570 (Electronic) Linking ISSN: 02716798 NLM ISO Abbreviation: J Pediatr Orthop Subsets: MEDLINE

مواضيع طبية MeSH: Clubfoot*/therapy , Clubfoot*/surgery , Casts, Surgical* , Arthrogryposis*/therapy , Arthrogryposis*/surgery , Recurrence*, Humans ; Retrospective Studies ; Male ; Female ; Infant ; Child, Preschool ; Treatment Outcome ; Child ; Follow-Up Studies ; Adolescent ; Infant, Newborn ; Tenotomy/methods

المؤلفون: McBain K; School of Physical and Occupational Therapy, McGill University, Montreal, Canada., Dinh C; School of Physical and Occupational Therapy, McGill University, Montreal, Canada., Haffar M; School of Physical and Occupational Therapy, McGill University, Montreal, Canada., Steinberg E; School of Physical and Occupational Therapy, McGill University, Montreal, Canada., Cachecho S; Clinical Research Department, Shriners Hospital for Children, Montreal, Canada., Bussières A; School of Physical and Occupational Therapy, McGill University, Montreal, Canada.; Département Chiropratique, Université du Québec à Trois-Rivières, Trois-Rivières, Canada., Dahan-Oliel N; School of Physical and Occupational Therapy, McGill University, Montreal, Canada.; Clinical Research Department, Shriners Hospital for Children, Montreal, Canada.

المصدر: Disability and rehabilitation [Disabil Rehabil] 2024 Sep; Vol. 46 (18), pp. 4140-4156. Date of Electronic Publication: 2023 Oct 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 9207179 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1464-5165 (Electronic) Linking ISSN: 09638288 NLM ISO Abbreviation: Disabil Rehabil Subsets: MEDLINE

مواضيع طبية MeSH: Arthrogryposis*/rehabilitation , Qualitative Research* , Attitude of Health Personnel*, Humans ; Female ; Male ; Child ; Interviews as Topic ; Adult ; Europe

المؤلفون: Manjunathan S; From the Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur., Singh K; From the Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur., Saini L; From the Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur.

المصدر: Neurology [Neurology] 2024 Jul 23; Vol. 103 (2), pp. e209602. Date of Electronic Publication: 2024 Jun 13.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Arthrogryposis*/genetics , Arthrogryposis*/diagnosis , Arthrogryposis*/complications, Humans ; Female ; Pregnancy ; Myasthenic Syndromes, Congenital/genetics ; Myasthenic Syndromes, Congenital/diagnosis ; Myasthenic Syndromes, Congenital/complications ; Adult ; Abnormalities, Multiple ; Malignant Hyperthermia ; Skin Abnormalities

SCR Disease Name: Multiple pterygium syndrome

المؤلفون: Honcharuk EM; Department of Orthopaedic Surgery, The Johns Hopkins University, Baltimore, MD., Jeans KA; Scottish Rite for Children, Dallas, TX., Polk JL; Scottish Rite for Children, Dallas, TX., Johnston CE; Scottish Rite for Children, Dallas, TX.

المصدر: Journal of pediatric orthopedics [J Pediatr Orthop] 2024 Aug 01; Vol. 44 (7), pp. e604-e611. Date of Electronic Publication: 2024 Apr 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8109053 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-2570 (Electronic) Linking ISSN: 02716798 NLM ISO Abbreviation: J Pediatr Orthop Subsets: MEDLINE

مواضيع طبية MeSH: Knee Dislocation*/surgery , Knee Dislocation*/congenital , Arthrogryposis*/surgery , Patient Reported Outcome Measures*, Humans ; Female ; Male ; Infant ; Treatment Outcome ; Child ; Range of Motion, Articular ; Child, Preschool ; Follow-Up Studies ; Osteochondrodysplasias/surgery ; Gait ; Quadriceps Muscle/surgery ; Quadriceps Muscle/abnormalities ; Adolescent ; Adult ; Retrospective Studies ; Gait Analysis/methods ; Case-Control Studies

المؤلفون: Morali B; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada., Miranda V; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada., Raelson J; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada., Grimard G; Department of Orthopedics, CHU Sainte-Justine, Montreal, Quebec, Canada., Glavas P; Department of Orthopedics, CHU Sainte-Justine, Montreal, Quebec, Canada., Audibert F; Department of Obstetrics and Gynecology, Faculty of Medicine, University of Montreal, Montreal, Quebec, Canada., Dumont NA; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada., Barone J; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada., Bamshad M; Seattle Children's Hospital, Seattle, Washington, USA.; Department of Pediatrics and Genome Sciences, University of Washington, Seattle, Washington, USA., Lemyre E; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada., Campeau PM; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.

المصدر: Clinical genetics [Clin Genet] 2024 Oct; Vol. 106 (4), pp. 483-487. Date of Electronic Publication: 2024 Jun 10.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Arthrogryposis*/genetics , Arthrogryposis*/pathology , Alleles* , Genes, Recessive*, Humans ; Male ; Female ; Pedigree ; Molecular Motor Proteins/genetics ; Mutation/genetics ; Phenotype ; Genetic Predisposition to Disease ; Cytoskeletal Proteins

المؤلفون: Iyer A; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD, USA., Lauerova B; Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czech Republic; Full Member of the ERN Euro-NMD, Prague, Czech Republic., Mariano J; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD, USA., Haberlová J; Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czech Republic; Full Member of the ERN Euro-NMD, Prague, Czech Republic., Lassuthova P; Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czech Republic; Full Member of the ERN Euro-NMD, Prague, Czech Republic., Zidkova J; Centre of Molecular Biology and Genetics, University Hospital Brno, Czech Republic., Wright NT; Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, VA, USA., Kontrogianni-Konstantopoulos A; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD, USA. Electronic address: akontrogianni@som.umaryland.edu.

المصدر: Gene [Gene] 2024 Jun 05; Vol. 910, pp. 148339. Date of Electronic Publication: 2024 Mar 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Arthrogryposis*/genetics , Arthrogryposis*/metabolism , Muscular Diseases*, Humans ; Mutation, Missense

SCR Disease Name: Arthrogryposis multiplex congenita, distal type 1

المؤلفون: Turgut GT; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Altunoglu U; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey., Gulec C; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Sarac Sivrikoz T; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Kalaycı T; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Toksoy G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Avcı Ş; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey., Yıldırım BT; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Sayın GY; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Kalelioglu IH; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Karaman B; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Department of Pediatric Basic Sciences, Institute of Child Health, Istanbul University, Istanbul, Turkey., Has R; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Başaran S; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Yuksel A; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Kayserili H; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey., Uyguner ZO; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

المصدر: Clinical genetics [Clin Genet] 2024 Jun; Vol. 105 (6), pp. 596-610. Date of Electronic Publication: 2024 Jan 26.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Arthrogryposis*/genetics , Arthrogryposis*/diagnosis , Arthrogryposis*/pathology , Phenotype* , Fetus*/pathology, Humans ; Female ; Male ; Exome Sequencing ; Contracture/genetics ; Contracture/diagnosis ; Contracture/pathology ; Pregnancy ; Ultrasonography, Prenatal ; Mutation ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/pathology

SCR Disease Name: Pena Shokeir syndrome, type 1

المؤلفون: Merkuryeva ES; Research Centre for Medical Genetics, 115522 Moscow, Russia., Markova TV; Research Centre for Medical Genetics, 115522 Moscow, Russia., Kenis VM; The Turner Scientific Research Institute for Children's Orthopedics, 196603 Saint Petersburg, Russia., Agranovich OE; The Turner Scientific Research Institute for Children's Orthopedics, 196603 Saint Petersburg, Russia., Dan IM; The National Medical Research Center of Traumatology and Orthopedics Named after N.N. Priorov, 127299 Moscow, Russia., Kotalevskaya YY; Vladimirsky Moscow Regional Research and Clinical Institute, 61/2, Schepkina St., 129110 Moscow, Russia.; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, 10, St. Ushaika River Embankment, 634050 Tomsk, Russia.; Charitable Foundation «BELA. Butterfly Children», Building 3, Room 1, Furmanny Lane, 105062 Moscow, Russia., Shchagina OA; Research Centre for Medical Genetics, 115522 Moscow, Russia., Ryzhkova OP; Research Centre for Medical Genetics, 115522 Moscow, Russia., Fomenko SS; Genoanalytica Laboratory, 119234 Moscow, Russia., Dadali EL; Research Centre for Medical Genetics, 115522 Moscow, Russia., Kutsev SI; Research Centre for Medical Genetics, 115522 Moscow, Russia.

المصدر: Genes [Genes (Basel)] 2024 May 23; Vol. 15 (6). Date of Electronic Publication: 2024 May 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Tacrolimus Binding Proteins*/genetics , Arthrogryposis*/genetics , Arthrogryposis*/pathology , Arthrogryposis*/diagnosis , Phenotype* , Osteogenesis Imperfecta*/genetics , Osteogenesis Imperfecta*/pathology, Humans ; Male ; Female ; Child ; Child, Preschool ; Pedigree ; Exome Sequencing ; Adolescent ; Mutation ; Infant ; Adult ; Nervous System Malformations/genetics

SCR Disease Name: Bruck syndrome 1

المؤلفون: Elekanachi RU; School of Physical & Occupational Therapy, McGill University, Montreal, Canada. rose.elekanachi@mail.mcgill.ca., Lajoie A; School of Physical & Occupational Therapy, McGill University, Montreal, Canada., Tavukcu S; Shriners Hospitals for Children, Montreal, Canada., Snider LM; School of Physical & Occupational Therapy, McGill University, Montreal, Canada., Dahan-Oliel N; School of Physical & Occupational Therapy, McGill University, Montreal, Canada.; Shriners Hospitals for Children, Montreal, Canada.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jun 14; Vol. 19 (1), pp. 235. Date of Electronic Publication: 2024 Jun 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Arthrogryposis* , Caregivers*/psychology, Humans ; Child ; Adolescent ; Female ; Male ; Child, Preschool ; Infant ; Young Adult ; Adult ; Rare Diseases ; Qualitative Research ; Infant, Newborn ; Musculoskeletal Diseases